ClinVar Miner

Submissions for variant NM_001754.4(RUNX1):c.18A>G (p.Ile6Met) (rs199929612)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Myeloid Malignancy Variant Curation Expert Panel RCV000528140 SCV000965633 likely benign Familial platelet disorder with associated myeloid malignancy 2019-08-02 reviewed by expert panel curation MAF for NM_001754.4:c.18A>G (p.Ile6Met) variant is 0.00025 (0.02%, 17/66732 Alleles) in the non-Finnish European subpopulation of ExAC database, which is between 0.00015 (0.015%) and 0.0015 (0.15%) (BS1). Note: The variant is classified as likely benign based on BS1 alone with no contradictory evidence supporting pathogenicity. In summary, this variant meets criteria to be classified as likely benign. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BS1.
Invitae RCV000528140 SCV000638135 benign Familial platelet disorder with associated myeloid malignancy 2017-11-29 criteria provided, single submitter clinical testing

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